ClinVar for MedGen (Select 314107) - ClinVar - NCBI

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Items: 15

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 7733161.	NM_000422.3(KRT17):c.834+5G>A GRCh37: Chr17:39777840 GRCh38: Chr17:41621588	KRT17		not provided, Pachyonychia congenita 2, Steatocystoma multiplex	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5182522.	NM_005555.4(KRT6B):c.332G>A (p.Gly111Asp) GRCh37: Chr12:52845531 GRCh38: Chr12:52451747	KRT6B	G111D	Pachyonychia congenita 2	Benign (Aug 21, 2015)	criteria provided, single submitter
Select item 2653213.	NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del) GRCh37: Chr17:39780470-39780472 GRCh38: Chr17:41624218-41624220	KRT17	S97del	Steatocystoma multiplex, Pachyonychia congenita 2, not provided	Pathogenic/Likely pathogenic (Jul 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145994.	NM_000422.3(KRT17):c.304G>A (p.Val102Met) GRCh37: Chr17:39780458 GRCh38: Chr17:41624206	KRT17	V102M	Pachyonychia congenita 2	Pathogenic (Mar 1, 2002)	no assertion criteria provided
Select item 145985.	NM_000422.3(KRT17):c.296T>C (p.Leu99Pro) GRCh37: Chr17:39780466 GRCh38: Chr17:41624214	KRT17	L99P	not provided	Pathogenic (Jun 9, 2015)	criteria provided, single submitter
Select item 145966.	NM_000422.3(KRT17):c.284T>C (p.Leu95Pro) GRCh37: Chr17:39780478 GRCh38: Chr17:41624226	KRT17	L95P	not provided	Pathogenic (May 14, 2015)	criteria provided, single submitter
Select item 145957.	NM_000422.3(KRT17):c.284T>A (p.Leu95Gln) GRCh37: Chr17:39780478 GRCh38: Chr17:41624226	KRT17	L95Q	Pachyonychia congenita 2	Pathogenic (May 1, 2001)	no assertion criteria provided
Select item 145948.	NM_000422.3(KRT17):c.281G>C (p.Arg94Pro) GRCh37: Chr17:39780481 GRCh38: Chr17:41624229	KRT17	R94P	Pachyonychia congenita 2	Pathogenic (May 1, 2001)	no assertion criteria provided
Select item 145939.	NM_000422.3(KRT17):c.281_295del (p.Arg94_Tyr98del) GRCh37: Chr17:39780467-39780481 GRCh38: Chr17:41624215-41624229	KRT17		Pachyonychia congenita 2	Pathogenic (May 1, 2001)	no assertion criteria provided
Select item 1459210.	NM_000422.3(KRT17):c.263T>C (p.Met88Thr) GRCh37: Chr17:39780499 GRCh38: Chr17:41624247	KRT17	M88T	Pachyonychia congenita 2	Pathogenic (Nov 1, 1999)	no assertion criteria provided
Select item 1459111.	NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) GRCh37: Chr17:39780482 GRCh38: Chr17:41624230	KRT17	R94C	not provided	Pathogenic (Jul 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1459012.	NM_000422.3(KRT17):c.281G>A (p.Arg94His) GRCh37: Chr17:39780481 GRCh38: Chr17:41624229	KRT17	R94H	Pachyonychia congenita 2, Steatocystoma multiplex, not provided, Steatocystoma multiplex	Pathogenic/Likely pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1458813.	NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp) GRCh37: Chr17:39780470 GRCh38: Chr17:41624218	KRT17	Y98D	Pachyonychia congenita 2	Pathogenic (Feb 1, 1997)	no assertion criteria provided
Select item 1458714.	NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) GRCh37: Chr17:39780487 GRCh38: Chr17:41624235	KRT17	N92S	Steatocystoma multiplex, Pachyonychia congenita 2, not provided, Pachyonychia congenita 2, Abnormality of the skin	Pathogenic (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1458615.	NM_000422.3(KRT17):c.274A>G (p.Asn92Asp) GRCh37: Chr17:39780488 GRCh38: Chr17:41624236	KRT17	N92D	not provided	Pathogenic (Nov 3, 2016)	criteria provided, single submitter